Tag: Genetics
Smoking Tied to Increased Risk for Type 2 Diabetes
People with a genetic susceptibility to developing diabetes may be more vulnerable to the adverse effects of smoking
Exa-Cel Gene Therapy Improves Quality of Life in Severe Sickle Cell Disease
Exa-cel also shows beneficial effects on health-related quality of life for adults and adolescents with transfusion-dependent β-thalassemia
Mediterranean Diet Beneficial in Those With High Alzheimer Disease Risk
Adherence to the Mediterranean diet more effectively modulates dementia-related metabolites in APOE4 homozygotes
Metabolic Syndrome Linked to Increased Risk for Parkinson Disease
Highest risk for Parkinson disease seen for participants with metabolic syndrome and high PD-related polygenic risk score
Mothers of Children With Down Syndrome Report Need for Improved Screening Communications
Many report navigating the screening process without sufficient information or emotional support
Risdiplam Beneficial for Infants With Genetically Diagnosed Spinal Muscular Atrophy
Improved functional, survival outcomes seen with risdiplam treatment before development of clinical signs or symptoms
Missed Opportunity Common in Patients With High-Grade Serous Ovarian Cancer
43.2 percent missed opportunity rate reported for germline genetic testing, risk-reducing surgery in those with affected first-degree relative
New Subtype of Diabetes Identified in Sub-Saharan Africans, Black Americans
Participants did not have islet autoantibodies and had significantly lower median type 1 diabetes genetic risk score
Polygenic Scores for BMI Can Improve Prediction of Future Obesity
Children with higher polygenic scores showed accelerated BMI gain from age 2.5 years to adolescence in ALSPAC study
ENDO: Sweeteners, Genetic Predisposition Independently Linked to Early Puberty
No significant interaction effects seen between genetic predisposition and sweetener intake for central precocious puberty risk
